F53S (p.Phe53Ser) variant of VWF (von Willebrand factor)
F53S (p.Phe53Ser) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
F53S (p.Phe53Ser) variant details
- p.Phe53Ser
- gnomAD rs1479532600
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.69
- MetaLR 0.57
- MetaSVM 0.43
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available